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Genetics and deafness: what do families want?

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Editor—Deafness is the most frequent sensory impairment in humans, with significant social and psychological implications. At least half of all cases of permanent childhood hearing impairment have a genetic cause.1 However, there is almost universal agreement among clinical geneticists that only a small proportion of such families are referred to clinical genetics services.2 Increasing public awareness of genetics in general will lead to increased demand. Therefore, what do families want and how should genetic services be planned?

Between September 1997 and October 1998, the parents of 522 hearing impaired children, aged between 4 and 13 years, in the Trent Health Region, were sent a questionnaire, which comprised 10 questions about their experience and opinion of clinical genetic services (see Appendix).

The families had been identified in a previous geographically defined, population based ascertainment study of childhood hearing impairment.3 A further 104 families identified by that study were excluded from the questionnaire survey because (1) they had indicated an unwillingness to participate in further research, (2) they were lost to follow up, (3) the child had died, or (4) a local professional had indicated an approach would not be appropriate. The majority (n=416) of families were also sent an invitation to take part in a home visit, to investigate clinical aspects of non-syndromal hearing impairment. Those not invited to participate in a home visit (n=106) were the families of children who had a named syndrome (with hearing impairment as a recognised association) or who had a definite diagnosis of meningitis. Eighty two families were visited as part of this aspect of the study. (These data are to be published elsewhere.)

Data from the previous study3 indicated that those not approached in the questionnaire survey were significantly less likely (p<0.05) to have been referred for genetic counselling, but showed no significant differences in terms of age, gestational age, history of admission to a neonatal intensive care unit (NICU), family history of childhood hearing impairment, age of onset of hearing impairment, severity of impairment, evidence of progression of the impairment, or the presence of other medical problems.

Following one reminder, 182 questionnaires were returned, a response rate of 34.9% (182/522). This response rate is low, as might be expected for a postal questionnaire study on a subject area of possibly low interest and perceived relevance to many people. Families who did return completed questionnaires differed significantly from families who did not, only in that responders were more likely to have been referred for genetic counselling (p<0.05). In terms of age, gestational age, history of admission to a neonatal intensive care unit (NICU), family history of childhood hearing impairment, age of onset of hearing impairment, severity of impairment, evidence of progression of the impairment, or the presence of other medical problems, this sample was representative of the overall population.

Sixty three families had received genetic counselling for hearing impairment from a recognised clinical genetic service (34.6%, 63/182). In addition, seven families said they had received “genetic counselling” from a variety of other sources: general physician with no specific qualification in genetic counselling (n=3), ENT surgeon (n=2), community paediatrician (n=1), and another researcher (n=1). Nine families had been offered genetic counselling, but either did not attend (n=3) or declined the offer at the time (n=6). All six families who declined, said that this was because they were unable to cope with another hospital appointment at a time of great stress. Thus, 79 families (43.4%) had an opportunity for some form of genetic counselling.

Of the 103 families not offered any genetic counselling, approximately half said they would like to have been (51.5%, 53/103). Forty four (55.7%, 44/79) of the children whose families were offered genetic counselling were assigned a genetic (non-syndromic or syndromic) aetiology, from all data available to the study, compared with only 27 (26.2%, 27/103) of those not offered genetic counselling. In contrast, three families offered counselling were assigned a perinatal aetiology and only one an environmental aetiology compared with 14 perinatal and 23 environmental who were not offered counselling. These data are summarised in table 1. The differences between the aetiology groups for those offered some sort of genetic counselling (n=79) and those not offered any (n=103) is significant (χ2=28.7, df=4, p⩽0.001).

Table 1

Experience of genetic counselling by assigned aetiology

Respondents were asked what they thought was good about the counselling they received and what was not so good. Sixty families made comments equally distributed between positive and negative. These are grouped and listed in table 2. Positive comments focused on informed explanation of possible cause and recurrence risks. However, an equal number of negative comments concerned the frustration and disappointment associated with lack of a firm diagnosis or clear cause, and the problems of one off appointments at inappropriate times. Major misconceptions about what genetics could offer were apparent.

Table 2

Positive and negative experiences of formal genetic counselling

The question “What would you most want from a Clinical Genetic service?” produced responses from 130 families, shown in table 3, the commonest being requests for information about the causes of their child's (or children's) hearing impairment and information on recurrence risks for the parents, the hearing impaired children, and their hearing sibs.

Table 3

What families most wanted from a clinical genetic service

Of the 82 families visited as part of the clinical part of this study, 34 had received formal genetic counselling between 1986 and 1996 and they were asked about this during the home visit, particularly whether they could remember being given a particular recurrence risk for having another hearing impaired child. The notes of 29 of these families who were seen by local clinical genetics services were also reviewed. The relevant notes of the families given counselling by sources other than recognised clinical genetics service were not available. Nine families could not remember the recurrence risk quoted and 13 actually recounted a different risk from that recorded as given in the notes. The parent's recollection of the recurrence risk exactly matched that quoted in the notes in only seven families (24.1%, 7/29) (table 4). Nine families (31%) could not remember and 13 (44.8%) did not remember exactly the recurrence risk they were given at formal genetic counselling. These numbers are too small to show statistical significance between the groups in terms of aetiology or satisfaction.

Table 4

Recurrence risk (RR) as documented in health service notes and as remembered by families

Although the response rate to this questionnaire survey is low (34.9%), the sample who responded are representative of the population and thus the results may be considered as indicative of families' views of counselling as provided in the late 1980s and early 1990s. Service provision has certainly increased since that time but there is no direct evidence that it has improved. Further work on recently diagnosed children would be needed to address this question now.

The results show that a sizeable number of families with hearing impaired children are not being offered genetic services. Families given access to genetic counselling describe positive and negative experiences in equal proportion. They primarily seek information about cause and recurrence risks. A substantial proportion of those not offered genetic counselling would like to have been. It is important to ensure that the service provided is meeting the needs of the people it serves.

Genetic counselling should be available to families not just at the time of initial diagnosis, but when families feel best able to assimilate such information. It should not just be seen as a one off offer at a time when families are probably least able to appreciate wider implications of the diagnosis. There will be some families with strong negative views towards “genetics” and their views should be respected.4

It is worrying that a sizeable proportion of those families who have had genetic counselling cannot remember correctly what recurrence risks they were quoted. Letters to families summarising genetic counselling sessions and follow up appointments could help towards minimising this.

The introduction of universal neonatal hearing screening means that more hearing impaired children will be detected early, allowing parents the opportunity to be informed about their recurrence risks while still relevant to their own family planning. Systematic investigation of the child is crucial,2 in particular to exclude an environmental or syndromal aetiology. Such investigation should be considered as a dynamic process, as some syndromal associations may only become manifest as a child grows older. Clinical genetics services will play a pivotal role in coordinating the investigation and counselling of such families (table 5).

Appendix Families' questionnaire.

Table 5

Take home messages


The authors wish to thank all those who participated in this study, in particular Dr Sally Hind from the MRC Institute of Hearing Research. Dr Parker was funded by a grant from the NHS Executive Trent, Research and Development Directorate.